Patient-specific induced pluripotent stem cell properties implicate Ca(2+)-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants

We illustrate use of induced pluripotent stem cells (iPSCs) as platforms for investigating cardiomyocyte phenotypes in a human family pedigree exemplified by novel heterozygous RYR2-A1855D and SCN10A-Q1362H variants occurring alone and in combination. The proband, a four-month-old boy, presented wit...

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Detalles Bibliográficos
Autores principales: Zhou, Yafei, Huang, Wenjun, Liu, Leiying, Li, Anmao, Jiang, Congshan, Zhou, Rui, Wang, Jie, Tan, Xiaoqiu, Huang, Christopher L.-H., Zhang, Yanmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Royal Society 2023
Materias:
Part III: Ca2+ Homeostasis and Excitation Contraction Coupling
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10150201/
https://www.ncbi.nlm.nih.gov/pubmed/37122207
http://dx.doi.org/10.1098/rstb.2022.0175

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10150201/
https://www.ncbi.nlm.nih.gov/pubmed/37122207
http://dx.doi.org/10.1098/rstb.2022.0175

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